aboutsummaryrefslogtreecommitdiff
path: root/rdf-documentation/genelist.md
blob: 1636c49d1b6f99641ebc9b7bca75fa7d33f086a6 (plain)
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
56
57
58
59
60
61
62
63
64
65
66
67
68
69
70
71
72
73
74
75
76
77
78
79
80
81
82
83
84
85
86
87
88
89
90
91
92
93
94
95
96
97
98
99
100
101
102
103
104
105
106
107
108
109
110
111
112
113
114
115
116
117
118
119
120
121
122
123
124
125
126
127
128
129
130
131
132
133
134
135
136
137
138
139
140
141
142
143
144
145
146
147
148
149
150
151
152
153
154
155
156
157
158
159
160
161
162
163
164
165
166
167
168
169
170
171
172
173
174
175
176
177
178
179
180
181
182
183
184
185
186
187
188
189
190
191
192
193
# Gene Metadata
## 'genelist-rn33'

## Generated Triples:

The following SQL query was executed:

```sql
SELECT GeneList_rn33.id AS GENE_UID, GeneList_rn33.geneSymbol, GeneList_rn33.chromosome, GeneList_rn33.txStart, GeneList_rn33.txEnd, GeneList_rn33.strand, GeneList_rn33.NM_ID, GeneList_rn33.kgID, GeneList_rn33.geneSymbol, GeneList_rn33.geneSymbol, GeneList_rn33.geneSymbol, GeneList_rn33.geneSymbol, GeneList_rn33.geneSymbol FROM GeneList_rn33
```

The above query results to triples that have the form:

```text
gn:gene_rn33Genelist_rn33_gene_uid -> rdf:type -> gnc:Gene 
gn:gene_rn33Genelist_rn33_gene_uid -> gnt:belongsToSpecies -> gn:Rattus_norvegicus 
gn:gene_rn33Genelist_rn33_gene_uid -> gnt:geneSymbol -> GeneList_rn33(geneSymbol) 
gn:gene_rn33Genelist_rn33_gene_uid -> gnt:chromosome -> GeneList_rn33(chromosome) 
gn:gene_rn33Genelist_rn33_gene_uid -> gnt:TxStart -> "GeneList_rn33(txStart)"^^xsd:double 
gn:gene_rn33Genelist_rn33_gene_uid -> gnt:TxEnd -> "GeneList_rn33(txEnd)"^^xsd:double 
gn:gene_rn33Genelist_rn33_gene_uid -> gnt:Strand -> GeneList_rn33(strand) 
gn:gene_rn33Genelist_rn33_gene_uid -> gnt:transcript -> transcript:GeneList_rn33(NM_ID) 
gn:gene_rn33Genelist_rn33_gene_uid -> gnt:hasKgID -> GeneList_rn33(kgID) 
gn:gene_rn33Genelist_rn33_gene_uid -> dct:references -> <http://www.pantherdb.org/genes/geneList.do?searchType=basic&fieldName=all&organism=all&listType=1&fieldValue=GeneList_rn33(geneSymbol)> .
<http://www.pantherdb.org/genes/geneList.do?searchType=basic&fieldName=all&organism=all&listType=1&fieldValue=GeneList_rn33(geneSymbol)> a gnc:PantherLink 
gn:gene_rn33Genelist_rn33_gene_uid -> dct:references -> <https://www.ebi.ac.uk/gwas/search?query=GeneList_rn33(geneSymbol)> .
<https://www.ebi.ac.uk/gwas/search?query=GeneList_rn33(geneSymbol)> a gnc:ebiGwasLink 
gn:gene_rn33Genelist_rn33_gene_uid -> dct:references -> <http://string-db.org/newstring_cgi/show_network_section.pl?identifier=GeneList_rn33%28geneSymbol%29> .
<http://string-db.org/newstring_cgi/show_network_section.pl?identifier=GeneList_rn33%28geneSymbol%29> a gnc:stringLink 
gn:gene_rn33Genelist_rn33_gene_uid -> dct:references -> <https://www.gtexportal.org/home/gene/GeneList_rn33%28geneSymbol%29> .
<https://www.gtexportal.org/home/gene/GeneList_rn33%28geneSymbol%29> a gnc:gtexLink 
gn:gene_rn33Genelist_rn33_gene_uid -> dct:references -> <http://www.proteinatlas.org/search/GeneList_rn33%28geneSymbol%29> .
<http://www.proteinatlas.org/search/GeneList_rn33%28geneSymbol%29> a gnc:proteinAtlasLink 
```
Here's an example query:

```sparql
PREFIX gn: <http://genenetwork.org/id/> 
PREFIX probeset: <http://genenetwork.org/probeset/> 
PREFIX gnc: <http://genenetwork.org/category/> 
PREFIX gnt: <http://genenetwork.org/term/> 
PREFIX rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> 
PREFIX rdfs: <http://www.w3.org/2000/01/rdf-schema#> 
PREFIX dct: <http://purl.org/dc/terms/> 
PREFIX owl: <http://www.w3.org/2002/07/owl#> 
PREFIX xsd: <http://www.w3.org/2001/XMLSchema#> 
PREFIX qb: <http://purl.org/linked-data/cube#> 
PREFIX gene: <http://www.ncbi.nlm.nih.gov/gene?cmd=Retrieve&dopt=Graphics&list_uids=> 
PREFIX sdmx-measure: <http://purl.org/linked-data/sdmx/2009/measure#> 
PREFIX transcript: <https://portals.broadinstitute.org/gpp/public/trans/details?transName=> 
PREFIX skos: <http://www.w3.org/2004/02/skos/core#> 

SELECT * WHERE { 
    ?s rdf:type gnc:Gene .
    ?s gnt:belongsToSpecies gn:Rattus_norvegicus .
    ?s gnt:geneSymbol "0610031j06rik" .
    ?s gnt:chromosome "2" .
    ?s ?p ?o .
}
```

Expected Result:

```rdf
gn:gene_rn331 rdf:type gnc:Gene .
gn:gene_rn331 gnt:belongsToSpecies gn:Rattus_norvegicus .
gn:gene_rn331 gnt:geneSymbol "0610031j06rik" .
gn:gene_rn331 gnt:chromosome "2" .
gn:gene_rn331 gnt:TxStart "180.388175"^^xsd:double .
gn:gene_rn331 gnt:TxEnd "180.391765"^^xsd:double .
gn:gene_rn331 gnt:Strand "+" .
gn:gene_rn331 gnt:transcript transcript:NM_001004226 .
gn:gene_rn331 dct:references <http://www.pantherdb.org/genes/geneList.do?searchType=basic&fieldName=all&organism=all&listType=1&fieldValue=0610031j06rik> .
<http://www.pantherdb.org/genes/geneList.do?searchType=basic&fieldName=all&organism=all&listType=1&fieldValue=0610031j06rik> a gnc:PantherLink .
gn:gene_rn331 dct:references <https://www.ebi.ac.uk/gwas/search?query=0610031j06rik> .
<https://www.ebi.ac.uk/gwas/search?query=0610031j06rik> a gnc:ebiGwasLink .
gn:gene_rn331 dct:references <http://string-db.org/newstring_cgi/show_network_section.pl?identifier=0610031j06rik> .
<http://string-db.org/newstring_cgi/show_network_section.pl?identifier=0610031j06rik> a gnc:stringLink .
gn:gene_rn331 dct:references <https://www.gtexportal.org/home/gene/0610031j06rik> .
<https://www.gtexportal.org/home/gene/0610031j06rik> a gnc:gtexLink .
gn:gene_rn331 dct:references <http://www.proteinatlas.org/search/0610031j06rik> .
<http://www.proteinatlas.org/search/0610031j06rik> a gnc:proteinAtlasLink .
```


## 'genelist'

## Generated Triples:

The following SQL query was executed:

```sql
SELECT CONCAT_WS('_', GeneSymbol, GeneID, AlignID) AS GENE_UID, GeneList.GeneSymbol, GeneList.GeneDescription, GeneList.GeneId, GeneList.GeneSymbol, GeneList.GeneSymbol, GeneList.GeneID, Species.Name, GeneList.GeneSymbol, Species.Name, GeneList.GeneID, Species.Name, GeneList.GeneID, GeneList.GeneSymbol, Species.FullName, GeneList.GeneSymbol, GeneList.GeneSymbol, GeneList.GeneSymbol, GeneList.GeneSymbol, GeneList.Chromosome, GeneList.TxStart, GeneList.TxEnd, GeneList.Strand, Species.Name, GeneList.NM_ID, GeneList.kgID, GeneList.UnigenID, GeneList.ProteinID, GeneList.AlignID, IFNULL(RGD_ID, '') AS RGD_ID FROM GeneList LEFT JOIN Species USING (SpeciesId)
```

The above query results to triples that have the form:

```text
gn:geneGENE_UID -> rdf:type -> gnc:Gene 
gn:geneGENE_UID -> gnt:geneSymbol -> GeneList(GeneSymbol) 
gn:geneGENE_UID -> dct:description -> GeneListGeneDescription 
gn:geneGENE_UID -> gnt:hasGeneId -> gene:GeneList(GeneId) 
gn:geneGENE_UID -> dct:references -> <https://www.ebi.ac.uk/gwas/search?query=GeneList%28GeneSymbol%29> .
<https://www.ebi.ac.uk/gwas/search?query=GeneList%28GeneSymbol%29> a gnc:ebiGwasLink 
gn:geneGENE_UID -> dct:references ->  
gn:geneGENE_UID -> dct:references ->  
gn:geneGENE_UID -> dct:references ->  
gn:geneGENE_UID -> dct:references -> <http://www.chibi.ubc.ca/Gemma/gene/showGene.html?ncbiid=GeneList(GeneID)> .
<http://www.chibi.ubc.ca/Gemma/gene/showGene.html?ncbiid=GeneList(GeneID)> a gnc:gemmaLink 
gn:geneGENE_UID -> dct:references ->  
gn:geneGENE_UID -> dct:references -> <http://www.pantherdb.org/genes/geneList.do?searchType=basic&fieldName=all&organism=all&listType=1&fieldValue=GeneList%28GeneSymbol%29> .
<http://www.pantherdb.org/genes/geneList.do?searchType=basic&fieldName=all&organism=all&listType=1&fieldValue=GeneList%28GeneSymbol%29> a gnc:pantherLink 
gn:geneGENE_UID -> dct:references -> <http://string-db.org/newstring_cgi/show_network_section.pl?identifier=GeneList%28GeneSymbol%29> .
<http://string-db.org/newstring_cgi/show_network_section.pl?identifier=GeneList%28GeneSymbol%29> a gnc:stringLink 
gn:geneGENE_UID -> dct:references -> <https://www.gtexportal.org/home/gene/GeneList%28GeneSymbol%29> .
<https://www.gtexportal.org/home/gene/GeneList%28GeneSymbol%29> a gnc:gtexLink 
gn:geneGENE_UID -> dct:references -> <http://www.proteinatlas.org/search/GeneList%28GeneSymbol%29> .
<http://www.proteinatlas.org/search/GeneList%28GeneSymbol%29> a gnc:proteinAtlasLink 
gn:geneGENE_UID -> gnt:chromosome -> GeneList(Chromosome) 
gn:geneGENE_UID -> gnt:TxStart -> "GeneList(TxStart)"^^xsd:double 
gn:geneGENE_UID -> gnt:TxEnd -> "GeneList(TxEnd)"^^xsd:double 
gn:geneGENE_UID -> gnt:Strand -> GeneList(Strand) 
gn:geneGENE_UID -> gnt:belongsToSpecies -> gn:Species_name 
gn:geneGENE_UID -> gnt:transcript -> transcript:GeneList(NM_ID) 
gn:geneGENE_UID -> gnt:hasKgID -> GeneList(kgID) 
gn:geneGENE_UID -> gnt:hasUnigenID -> GeneList(UnigenID) 
gn:geneGENE_UID -> gnt:hasProteinID -> GeneList(ProteinID) 
gn:geneGENE_UID -> gnt:hasAlignID -> GeneList(AlignID) 
gn:geneGENE_UID -> gnt:hasRgdID -> RGD_ID 
```
Here's an example query:

```sparql
PREFIX gn: <http://genenetwork.org/id/> 
PREFIX probeset: <http://genenetwork.org/probeset/> 
PREFIX gnc: <http://genenetwork.org/category/> 
PREFIX gnt: <http://genenetwork.org/term/> 
PREFIX rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> 
PREFIX rdfs: <http://www.w3.org/2000/01/rdf-schema#> 
PREFIX dct: <http://purl.org/dc/terms/> 
PREFIX owl: <http://www.w3.org/2002/07/owl#> 
PREFIX xsd: <http://www.w3.org/2001/XMLSchema#> 
PREFIX qb: <http://purl.org/linked-data/cube#> 
PREFIX gene: <http://www.ncbi.nlm.nih.gov/gene?cmd=Retrieve&dopt=Graphics&list_uids=> 
PREFIX sdmx-measure: <http://purl.org/linked-data/sdmx/2009/measure#> 
PREFIX transcript: <https://portals.broadinstitute.org/gpp/public/trans/details?transName=> 
PREFIX skos: <http://www.w3.org/2004/02/skos/core#> 

SELECT * WHERE { 
    ?s rdf:type gnc:Gene .
    ?s gnt:geneSymbol "OTTMUSG00000007" .
    ?s dct:description "predicted gene, OTTMUSG00000007987" .
    ?s gnt:hasGeneId gene:100137011 .
    ?s ?p ?o .
}
```

Expected Result:

```rdf
gn:geneOTTMUSG00000007_100137011_G211062 rdf:type gnc:Gene .
gn:geneOTTMUSG00000007_100137011_G211062 gnt:geneSymbol "OTTMUSG00000007" .
gn:geneOTTMUSG00000007_100137011_G211062 dct:description "predicted gene, OTTMUSG00000007987" .
gn:geneOTTMUSG00000007_100137011_G211062 gnt:hasGeneId gene:100137011 .
gn:geneOTTMUSG00000007_100137011_G211062 dct:references <https://www.ebi.ac.uk/gwas/search?query=OTTMUSG00000007> .
<https://www.ebi.ac.uk/gwas/search?query=OTTMUSG00000007> a gnc:ebiGwasLink .
gn:geneOTTMUSG00000007_100137011_G211062 dct:references <http://mouse.brain-map.org/search/show?search_type=gene&search_term=> .
<http://mouse.brain-map.org/search/show?search_type=gene&search_term=> a gnc:abaLink .
gn:geneOTTMUSG00000007_100137011_G211062 dct:references <https://rgd.mcw.edu/rgdweb/elasticResults.html?term=OTTMUSG00000007&category=Gene&species=Mouse> .
<https://rgd.mcw.edu/rgdweb/elasticResults.html?term=OTTMUSG00000007&category=Gene&species=Mouse> a gnc:rgdLink .
gn:geneOTTMUSG00000007_100137011_G211062 dct:references <http://biogps.org/?org=mouse#goto=genereport&id=100137011> .
<http://biogps.org/?org=mouse#goto=genereport&id=100137011> a gnc:biogpsLink .
gn:geneOTTMUSG00000007_100137011_G211062 dct:references <http://www.chibi.ubc.ca/Gemma/gene/showGene.html?ncbiid=100137011> .
<http://www.chibi.ubc.ca/Gemma/gene/showGene.html?ncbiid=100137011> a gnc:gemmaLink .
gn:geneOTTMUSG00000007_100137011_G211062 dct:references <https://genemania.org/search/mus-musculus/OTTMUSG00000007> .
<https://genemania.org/search/mus-musculus/OTTMUSG00000007> a gnc:genemaniaLink .
gn:geneOTTMUSG00000007_100137011_G211062 dct:references <http://www.pantherdb.org/genes/geneList.do?searchType=basic&fieldName=all&organism=all&listType=1&fieldValue=OTTMUSG00000007> .
<http://www.pantherdb.org/genes/geneList.do?searchType=basic&fieldName=all&organism=all&listType=1&fieldValue=OTTMUSG00000007> a gnc:pantherLink .
gn:geneOTTMUSG00000007_100137011_G211062 dct:references <http://string-db.org/newstring_cgi/show_network_section.pl?identifier=OTTMUSG00000007> .
<http://string-db.org/newstring_cgi/show_network_section.pl?identifier=OTTMUSG00000007> a gnc:stringLink .
gn:geneOTTMUSG00000007_100137011_G211062 dct:references <https://www.gtexportal.org/home/gene/OTTMUSG00000007> .
<https://www.gtexportal.org/home/gene/OTTMUSG00000007> a gnc:gtexLink .
gn:geneOTTMUSG00000007_100137011_G211062 dct:references <http://www.proteinatlas.org/search/OTTMUSG00000007> .
<http://www.proteinatlas.org/search/OTTMUSG00000007> a gnc:proteinAtlasLink .
gn:geneOTTMUSG00000007_100137011_G211062 gnt:chromosome "11" .
gn:geneOTTMUSG00000007_100137011_G211062 gnt:TxStart "60.630829"^^xsd:double .
gn:geneOTTMUSG00000007_100137011_G211062 gnt:TxEnd "60.632734"^^xsd:double .
gn:geneOTTMUSG00000007_100137011_G211062 gnt:belongsToSpecies gn:Mouse .
gn:geneOTTMUSG00000007_100137011_G211062 gnt:transcript transcript:AK046412 .
gn:geneOTTMUSG00000007_100137011_G211062 gnt:hasProteinID "Q8BQU9" .
gn:geneOTTMUSG00000007_100137011_G211062 gnt:hasAlignID "G211062" .
```